Canonical Allele Identifier: CA10632106
Gene: ABCA1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.104928169G>A
GRCh37 chr9:g.107690450G>A
gnomAD v2:
9:107690450 G / A
gnomAD v3:
9:104928169 G / A
gnomAD v4:
chr9-104928169-G-A
Joint Max Group AF 0.43425059 (AMR)
Genomes Max Group AF 0.43425059 (AMR)
Exomes Max Group AF 0.30646284 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104928169G>A , CM000671.2:g.104928169G>A GRCh38
NC_000009.11:g.107690450G>A , CM000671.1:g.107690450G>A GRCh37
NC_000009.10:g.106730271G>A NCBI36
NG_007981.1:g.4987C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.7:c.-327C>T ENSP00000363868.3:n.-327C>T
NM_005502.3:c.-327C>T NP_005493.2:n.-327C>T
XM_011518342.1:c.-390C>T XP_011516644.1:n.-390C>T
XR_930204.1:n.734+259G>A
XM_011518342.3:c.-390C>T XP_011516644.1:n.-390C>T
XR_930204.2:n.115+259G>A
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